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Clinical exome sequencing in France and Quebec: what are the challenges? What does the future hold?

机译:法国和魁北克的临床外壳测序:挑战是什么?未来该何去何从?

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摘要

Abstract Background The decreasing cost of next-generation sequencing technologies (NGS) has resulted in their increased use in research, and in the clinic. However, France and Quebec have not yet implemented nation-wide personalized medicine programs using NGS. To produce policies on the large-scale implementation of NGS, decision makers could benefit from a detailed understanding of how these technologies are currently used, their limitations, and the benefits they could bring to patients. Objectives We aimed at answering two research questions: How are patients’ NGS data currently managed in healthcare institutions in Quebec and in France? What issues do technology users identify which should be solved in order to implement clinical genomics at the national level? Method Through a multiple case study method, we analysed interviews and documentation from four teams that use whole-exome sequencing in hybrid clinical research projects focusing on cancer and rare diseases. Results Interviewees detailed numerous challenges linked with managing the complexity of the process of collecting and interpreting data in a relevant manner for patients, and described how obtaining buy-in from multiple stakeholders was necessary. Conclusion A strong political will is essential for personalized medicine to be implemented efficiently in France and Quebec.
机译:摘要背景下一代测序技术(NGS)的降低成本导致他们在研究中增加使用,并在诊所。但是,法国和魁北克委员会尚未使用NGS实施全国性的个性化医学计划。为了制定关于NGS的大规模实施的政策,决策者可以详细了解对目前使用这些技术的详细了解,他们的局限性以及他们可以给患者带来的益处。我们旨在回答两项研究问题:患者NGS数据如何在魁北克和法国在医疗机构中管理?技术用户确定哪些问题应该解决,以便在国家一级实施临床基因组学?通过多种案例研究方法,我们分析了四个团队的访谈和文档,这些团队在杂交临床研究项目中使用全面测序,专注于癌症和稀有疾病。结果受访者详细挑战,与患者以相关的方式管理收集和解释数据的过程的复杂性,并描述了如何从多个利益相关者获取买入。结论在法国和魁北克省有效实施的个性化药物,强烈的政治意愿至关重要。

著录项

  • 作者

    Gabrielle Bertier; Yann Joly;

  • 作者单位
  • 年度 2018
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  • 原文格式 PDF
  • 正文语种 eng
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